Pickwickian Syndrome

The symptoms of Pickwickian syndrome are similar to those of other chronic diseases like diabetes or heart disease. However, they are different from them because it is not known what causes these disorders. There is no cure for Pickwickian syndrome. There is currently no treatment for the disorder. People with this condition have a high risk of developing osteoarthritis (OA) later in life due to its association with OA.

Symptoms of Pickwickian Syndrome:

1. Painful joints.

These include the knees, ankles, hips, shoulders and back. They may hurt when walking or even sitting down. Sometimes they feel like pins and needles are pressing on your bones.

Some people experience pain while doing simple tasks such as driving a car or working out. Others do not notice any pain at all during everyday activities such as eating meals or sleeping at night without medication.

2. Joint inflammation.

When there is joint inflammation, it can cause swelling and redness of the affected area. It can also result in pain.

3. Muscle weakness.

Most people with Pickwickian syndrome will experience muscle weakness which results in difficulty performing physical tasks such as lifting heavy objects or climbing stairs.

4. Loss of bone density (osteoporosis).

This condition causes bones to become fragile and more likely to break. This loss of bone mass can happen around the joints which leads to the development of osteoarthritis (OA).

5. Osteoarthritis.

This disease causes cartilage to wear down in the ends of the bones. It causes pain, swelling, changes in movement and trouble with daily tasks such as walking or bending over.

6. Diabetes.

Having this condition means your blood sugar levels are too high. This can cause complications such as damage to the blood vessels, heart, eyes and kidneys.

7. Slow wound healing.

The body has a difficult time repairing itself after an injury. This might lead to longer recovery periods and an increased risk of infection in the affected area.

8. High blood pressure (hypertension).

This condition causes the force of blood against artery walls to increase which can place additional stress on the vital organs of the body. It can also damage the blood vessels and lead to organ failure.

9. High cholesterol (hyperlipidemia).

These are substances found in the blood that are used by the body to fight infection and clot blood. It becomes a problem when these substances become excessive in the blood. This can clog the arteries and lead to heart disease, stroke or kidney disease.

10. Sluggishness (hypotonia). The muscles become weak and loose which can lead to a waddling type of walk.

A person may also have problems sitting up on their own when they are an infant.

11. Delayed growth and puberty. Most people with this condition will experience a delay in the development of their voice, sexual organs and body hair at the normal time.

12. Distinctive facial features. This condition causes a round face with a large forehead, short nose, full lips and jowels.

13. Excessive sweating (hyperhidrosis) on the hands, feet and abdomen. This condition causes the affected person to sweat more than normal which can result in the growth of fungus (Athlete’s foot) on the feet if they are not properly cleaned.

How is Pickwickian syndrome inherited?

This condition is inherited in an Autosomal Recessive manner. This type of inheritance requires two copies of the defective gene (one from each parent) to be present before a person is affected by the disorder. The parents of a child with an autosomal recessive disorder both carry one copy of the defective gene, but do not show signs and symptoms of the condition.

The risk of having a child with this condition is lower if both parents carry one copy the gene. The risk is especially low if neither parent is affected by the condition and there is no family history of the disorder.

What does a person with Pickwickian syndrome look like?

Many signs and symptoms of this condition are present at birth or become apparent in infancy. These include:

1. A round face with a large forehead and a short nose.

2. A short neck.

3. Large tongue.

4. Drooping eyelids.

5. Epicanthal folds where the upper eyelids fold of the edge of the eyelids towards the side of the eyes (in the inner corner).

This is a common feature in people with Down Syndrome and in some Asian people.

6. A short wide neck.

7. Thick wrist and ankles.


Sources & references used in this article:

Extreme obesity associated with alveolar hypoventilation—a Pickwickian syndrome by CS Burwell, ED Robin, RD Whaley… – The American journal of …, 1956 – amjmed.com

Hypercapnia in the obstructive sleep apnea syndrome: a reevaluation of the “Pickwickian syndrome” by DM Rapoport, SM Garay, H Epstein, RM Goldring – Chest, 1986 – Elsevier

Progesterone for outpatient treatment of Pickwickian syndrome by FD SUTTON Jr, CW ZWILLICH… – Annals of Internal …, 1975 – acpjournals.org

The Pickwickian syndrome—obesity hypoventilation syndrome by SW Littleton, B Mokhlesi – Clinics in chest medicine, 2009 – chestmed.theclinics.com

Neurophysiological studies of abnormal night sleep and the Pickwickian syndrome by R Jung, W Kuhlo – Progress in brain research, 1965 – Elsevier